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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2016

Open Access 01-12-2016 | Review

Rethinking fatigue in Gaucher disease

Authors: Y. Chen Zion, E. Pappadopulos, M. Wajnrajch, H. Rosenbaum

Published in: Orphanet Journal of Rare Diseases | Issue 1/2016

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Abstract

Background

Gaucher disease (GD) is a rare lysosomal storage disease caused by deficiency in the enzyme beta-glucocerebrosidase. Along with visceral, hematologic, and bone manifestations, patients may experience chronic fatigue resulting in functional disability and reduced quality of life. Management of the disease includes therapeutic intervention, supportive therapies, and regular monitoring of all clinically relevant disease signs and symptoms. However, current practice guidelines do not include measurement of fatigue or therapeutic goals for fatigue.

Objective

To provide insight regarding key considerations for fatigue in GD.

Methods

We conducted a systematic PubMed literature search and an exploratory, hypothesis-generating survey regarding fatigue in GD.

Results

Our literature search resulted in 19 publications. Of these, 6 were identified that assessed fatigue, including 2 that used specific fatigue assessment instruments. In our survey involving 14 patients with Type 1 GD and 19 physicians, patients ascribed greater importance to fatigue than other disease parameters, while physicians placed more emphasis on objective measures of visceral and hematologic disease manifestations.

Conclusions

Collectively, the results of our literature analysis and survey underscore the need for further investigation and in-office evaluation of fatigue in patients with GD, which will require a reliable, validated, and disease-specific instrument. Criteria for clinically significant fatigue in patients with GD should be established along with the development of a fatigue scale specifically designed for this patient population to provide a more objective means to potentially incorporate fatigue assessment into routine monitoring practices.
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Metadata
Title
Rethinking fatigue in Gaucher disease
Authors
Y. Chen Zion
E. Pappadopulos
M. Wajnrajch
H. Rosenbaum
Publication date
01-12-2016
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2016
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-016-0435-x

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